المؤلفون: Dias, Cristina, Sincan, Murat, Cherukuri, Praveen F., Rupps, Rosemarie, Huang, Yan, Briemberg, Hannah, Selby, Kathryn, Mullikin, James C., Markello, Thomas C., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.

المصدر: Dias , C , Sincan , M , Cherukuri , P F , Rupps , R , Huang , Y , Briemberg , H , Selby , K , Mullikin , J C , Markello , T C , Adams , D R , Gahl , W A & Boerkoel , C F 2012 , ' An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia ' , Human Mutation , vol. 33 , no. 4 , pp. 614-626 . https://doi.org/10.1002/humu.22032Test

مصطلحات موضوعية: CAPN3, Clinical genetic testing, Exome, HSP, LGMD, Neuromuscular disorders

الإتاحة: https://doi.org/10.1002/humu.22032Test
https://kclpure.kcl.ac.uk/portal/en/publications/c931578e-affa-48e1-8500-520da0bd2525Test
http://www.scopus.com/inward/record.url?scp=84862777349&partnerID=8YFLogxKTest

المؤلفون: Dias, Cristina, Sincan, Murat, Cherukuri, Praveen F., Rupps, Rosemarie, Huang, Yan, Briemberg, Hannah, Selby, Kathryn, Mullikin, James C., Markello, Thomas C., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.

المصدر: Dias , C , Sincan , M , Cherukuri , P F , Rupps , R , Huang , Y , Briemberg , H , Selby , K , Mullikin , J C , Markello , T C , Adams , D R , Gahl , W A & Boerkoel , C F 2012 , ' An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia ' , Human Mutation , vol. 33 , no. 4 , pp. 614-626 . https://doi.org/10.1002/humu.22032Test

مصطلحات موضوعية: CAPN3, Clinical genetic testing, Exome, HSP, LGMD, Neuromuscular disorders

الإتاحة: https://doi.org/10.1002/humu.22032Test
https://kclpure.kcl.ac.uk/portal/en/publications/an-analysis-of-exome-sequencing-for-diagnostic-testing-of-the-genes-associated-with-muscle-disease-and-spastic-paraplegiaTest(c931578e-affa-48e1-8500-520da0bd2525).html
http://www.scopus.com/inward/record.url?scp=84862777349&partnerID=8YFLogxKTest